Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.

  title={Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.},
  author={Muhammad I. Shabbir and Z M Ahmed and Shahid Yar Khan and Saima Riazuddin and A M Waryah and Shaheen N. Khan and Roselyne Camps and Manju Ghosh and Madhulika Kabra and Inna A. Belyantseva and Thomas B Friedman and S. Amer Riazuddin},
  journal={Journal of medical genetics},
  volume={43 8},
BACKGROUND Approximately half the cases of prelingual hearing loss are caused by genetic factors. Identification of genes causing deafness is a crucial first step in understanding the normal function of these genes in the auditory system. Recently, a mutant allele of Tmhs was reported to be associated with deafness and circling behaviour in the hurry-scurry mouse. Tmhs encodes a predicted tetraspan protein of unknown function, which is expressed in inner ear hair cells. The human homologue of… CONTINUE READING


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